B-Cell Expansion with NFKB and T-Cell Anergy

Preferred Label : B-Cell Expansion with NFKB and T-Cell Anergy;

NCIt synonyms : BENTA;

NCIt related terms : CARD 11/BENTA;

NCIt definition : An autosomal dominant condition caused by heterozygous germline gain-of-function mutation(s) in the CARD11 gene, encoding caspase recruitment domain-containing protein 11. It is characterized by splenomegaly and lymphocytosis resulting from polyclonal expansion of B-cells.;

Details

Origin ID

C176791;

UMLS CUI

C4551967;

Currated CISMeF NLP mapping
- B-cell expansion with nfkb and t-cell anergy [OMIM Phenotype]
- B-cell expansion with nuclear factor kappa light chain enhancer of activated B cells and T-cell anergy disease (disorder) [SNOMED CT concept]
- BENTA disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- B-cell expansion with nfkb and t-cell anergy [OMIM Phenotype]
- B-cell expansion with nuclear factor kappa light chain enhancer of activated B cells and T-cell anergy disease (disorder) [SNOMED CT concept]
disease_mapped_to_gene
- CARD11 Gene [NCIt concept]

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